Canonical Allele Identifier: CA360104223
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719318-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719318C>A , CM000667.2:g.71719318C>A GRCh38
NC_000005.9:g.71015145C>A , CM000667.1:g.71015145C>A GRCh37
NC_000005.8:g.71050901C>A NCBI36
NG_015988.1:g.5156C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.25C>A MANE Select ENSP00000296777.4:p.Leu9Met
ENST00000296777.4:c.25C>A ENSP00000296777.4:p.Leu9Met
NM_004291.3:c.25C>A NP_004282.1:p.Leu9Met
NM_004291.4:c.25C>A MANE Select NP_004282.1:p.Leu9Met